ClinVar Miner

List of variants in gene TCOF1 reported as pathogenic by OMIM

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Total variants: 11
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HGVS dbSNP
NM_000356.4(TCOF1):c.1404_1405AG[1] (p.Glu469fs) rs587776583
NM_000356.4(TCOF1):c.1404_1405AG[2] (p.Ser470fs) rs587776583
NM_000356.4(TCOF1):c.149A>G (p.Tyr50Cys) rs28941769
NM_000356.4(TCOF1):c.2731C>T (p.Arg911Ter) rs119470017
NM_000356.4(TCOF1):c.2876dup (p.Ser959fs) rs587777314
NM_000356.4(TCOF1):c.376_378+15del rs587776584
NM_000356.4(TCOF1):c.4133_4137AAGAA[1] (p.Lys1380fs) rs587776582
NM_000356.4(TCOF1):c.4134del (p.Glu1379fs) rs587776585
NM_000356.4(TCOF1):c.422dup (p.His141fs) rs587776580
NM_000356.4(TCOF1):c.497_500del (p.Asn166fs) rs587776581
NM_000356.4(TCOF1):c.754C>T (p.Gln252Ter) rs119470016

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